| 1 | PDS, SLC26A4
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| Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
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| Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ.
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| Hum Mutat 30(4):599-608.
2009
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| 2 | DFNB4, PDS, SLC26A4
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| A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
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| Pera A, Villamar M, Viñuela A, Gandía M, Medà C, Moreno F, Hernández-Chico C.
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| Eur J Hum Genet 16(8):888-96. Epub 2008 Feb 20.
2008
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| 3 | SLC6A4, PDS
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| Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
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| Palos F, Garc’a-Rendueles ME, Araujo-Vilar D, Obregon MJ, Calvo RM, Cameselle-Teijeiro J, Bravo SB, Perez-Guerra O, Loidi L, Czarnocka B, Alvarez P, Refetoff S, Dominguez-Gerpe L, Alvarez CV, Lado-Abeal J.
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| J Clin Endocrinol Metab 93(1):267-77. Epub 2007 Oct 16. 2008
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| 4 | DFNB4, PDS, SLC26A4
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| Heterogeneity in the processing defect of SLC26A4 mutants.
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| Yoon JS, Park HJ, Yoo SY, Namkung W, Jo MJ, Koo SK, Park HY, Lee WS, Kim KH, Lee MG.
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| J Med Genet 45(7):411-9. Epub 2008 Feb 29. 2008
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| 5 | SLC26A4, PDS
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| Genotype-phenotype correlations for SLC26A4-related deafness.
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| Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ.
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| Hum Genet 122(5):451-7. Epub 2007 Aug 10. 2007
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| 6 | TPO, SLC26A4, PDS, TIOD
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| Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
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| Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, MŸller-Forell W, Kopp P, Pohlenz J.
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| J Clin Endocrinol Metab 91(7):2678-81. Epub 2006 May 9. 2006
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| 7 | SLC26A4, PDS
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| Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.
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| Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H.
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| J Hum Genet 51(9):805-10. Epub 2006 Aug 19. 2006
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| 8 | SLC26A4, PDS, DFNB4
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| SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
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| Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ.
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| J Med Genet 42(2):159-65. No abstract available. 2005
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| 9 | DFNB4, SLC26A4, PDS
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| Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.
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| Arellano B, Pera A, Ramirez-Camacho R, Villamar M, Trinidad A, Garcia JR, Moreno F, Hernandez-Chico C.
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| Clin Genet 67(5):438-40. No abstract available. 2005
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| 10 | SLC26A4, PDS
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| Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.
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| Yang JJ, Tsai CC, Hsu HM, Shiao JY, Su CC, Li SY.
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| Hear Res 199(1-2):22-30. 2005
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| 11 | SLC26A4, PDS
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| Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
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| Shears D, Conlon H, Murakami T, Fukai K, Alles R, Trembath R, Bitner-Glindzicz M.
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| Clin Genet 65(5):384-9. 2004
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| 12 | SLC26A4, PDS
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| Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
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| Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabedian EN, Marlin S.
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| Clin Genet 66(4):333-40. 2004
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| 13 | PDS, SLC26A4
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| Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.
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| Bogazzi F, Russo D, Raggi F, Ultimieri F, Berrettini S, Forli F, Grasso L, Ceccarelli C, Mariotti S, Pinchera A, Bartalena L, Martino E.
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| J Endocrinol Invest 27(5):430-5. 2004
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| 14 | PDS, SLC26A4
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| Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
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| Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ.
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| J Med Genet 40(4):242-8. 2003
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| 15 | PDS
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| Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.
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| Rotman-Pikielny P, Hirschberg K, Maruvada P, Suzuki K, Royaux IE, Green ED, Kohn LD, Lippincott-Schwartz J, Yen PM.
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| Hum Mol Genet 11(21):2625-33. 2002
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| 16 | SLC26A4, PDS
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| Expression of PDS/Pds, the Pendred syndrome gene, in endometrium.
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| Suzuki K, Royaux IE, Everett LA, Mori-Aoki A, Suzuki S, Nakamura K, Sakai T, Katoh R, Toda S, Green ED, Kohn LD.
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| J Clin Endocrinol Metab 87(2):938. 2002
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| 17 | DFNB4, PDS, SLC26A4
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| Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
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| Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ.
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| Hum Mutat 17(5):403-11. 2001
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| 18 | EYA1, PDS
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| Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.
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| Namba A, Abe S, Shinkawa H, Kimberling WJ, Usami SI.
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| J Hum Genet 46(9):518-21. 2001
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